Coriell Institute for Medical Research
Coriell Institute of Medical Research
  • Request a Quote
  • Donate
  • Login
  • View Cart
Sample Catalog | Custom Services | Core Facilities | Genomic Data Search
  • Biobank
    • NIGMS
    • NINDS
    • NIA
    • NHGRI
    • NEI
    • Allen Cell Collection
    • Rett Syndrome iPSC Collection
    • Autism Research Resource
    • HD Community Biorepository
    • CDC Cell and DNA
    • J. Craig Venter Institute
    • Orphan Disease Center Collection
    • All Biobanks
  • Research
    • Overview
    • Meet Our Scientists
      • Our Faculty
      • Our Scientific Staff
    • Camden Cancer Research Center
    • Epigenetic Therapies SPORE
    • Core Facilities
    • Epigenomics
    • Camden Opioid Research Initiative (CORI)
    • The Issa & Jelinek Lab
    • The Jian Huang Lab
    • The Luke Chen Lab
      • The Lab
      • The Team
      • Publications
    • The Scheinfeldt Lab
    • The Shumei Song Lab
    • The Nora Engel Lab
      • The Lab
      • The Team
      • Publications
    • Publications
  • Services
    • Overview
    • Biobanking Services
      • Core Services
      • Project Management
      • Research Support Services
      • Sample Cataloging
      • Sample Collection Kits
      • Sample Data Management
      • Sample Distribution
      • Sample Management
      • Sample Procurement
      • Sample Storage
    • Bioinformatics and Biostatistics Services
    • Cellular and Molecular Services
      • Biomarker Research Solutions
      • Cell Culture
      • Nucleic Acid Isolation and Quality Control
    • Clinical Trial Support
      • Overview
      • Sample Collection
      • Data Management
      • Sample Processing and QC
      • Storage and Distribution
      • Biomarker Services
      • Data Analaysis
    • Core Facilties
      • Overview
      • Animal and Xenograft
      • Bioinformatics and Biostatistics
      • Cell Imaging
      • CRISPR Gene Engineering
      • Flow Cytometry and Cell Sorting
      • Genomics and Epigenomics
      • iPSC - Induced Pluripotent Stem Cells
      • Organoids
    • Coriell Marketplace
    • Genomic, Epigenomic and Multiomics Services
    • Stem Cells and iPSC Services
      • Core Services
      • Reprogramming
      • Characterization and Quality Control
      • Differentiated Cell Lines
      • iPSC-Derived Organoids
      • iPSC Expansion
      • iPSC Gene Editing
  • Ordering
    • Stem Cells
    • Cell Lines
    • DNA and RNA
    • Featured Products
      • FFPE
      • HMW DNA
    • Genomic Data Search
    • Search by Catalog ID
    • Help
      • Create Account
      • Order Online
      • Ordering FAQ
      • FAQs/Culture Instructions
      • Reference Materials
        • Biobanks
        • NIGMS Repository
        • NHGRI Repository
        • NINDS Repository
        • NIA Repository
        • NIST
        • GeT-RM
      • Secondary Distribution Policies
      • MTA Assurance Form
      • Shipment Policy
      • Contact Customer Service
  • About Us
    • Our History
    • Meet Our Team
    • Meet Our Board
    • Education
      • Science Fair
      • Summer Experience
      • Outreach
      • Research Program Internship
    • Press Room
      • Press Releases
      • Coriell Blog
      • Annual Report
    • Careers
      • Working at Coriell
    • Giving
      • Donate
      • Giving FAQ
    • Contact Us
    • Legal Notice
  • Login View Cart
search submit
NA13765 DNA from LCL

Description:

ATAXIA-TELANGIECTASIA; AT
ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

Affected:

Yes

Sex:

Female

Age:

10 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities
Class Repair Defective and Chromosomal Instability Syndromes
Class Syndromes with Increased Chromosome Breakage
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks AT403AIV3; diagnosed at ten years of age; donor subject is a compound heterozygote: the maternal allele of the ATM gene contains a two bp insertion at nucleotide 6405 (6405 insTT) at codon 2136 in exon 46 which results in a frameshift and a truncated protein; the paternal allele of the ATM gene contains a splicing site mutation (IVS62+1 G>A) which results in the skipping of exon 62, a frameshift and truncation.

Characterizations

back to top
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 1 ; ATAXIA-TELANGIECTASIA
Identified Mutation 6405insTT
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 2 skipped exon 62, G2891fsX; ATAXIA-TELANGIECTASIA
Identified Mutation IVS62+1G>A

Phenotypic Data

back to top
Remarks AT403AIV3; diagnosed at ten years of age; donor subject is a compound heterozygote: the maternal allele of the ATM gene contains a two bp insertion at nucleotide 6405 (6405 insTT) at codon 2136 in exon 46 which results in a frameshift and a truncated protein; the paternal allele of the ATM gene contains a splicing site mutation (IVS62+1 G>A) which results in the skipping of exon 62, a frameshift and truncation.

External Links

back to top
dbSNP dbSNP ID: 11874
Gene Cards ATM
Gene Ontology GO:0003677 DNA binding
GO:0003700 transcription factor activity
GO:0004674 protein serine/threonine kinase activity
GO:0005622 intracellular
GO:0005634 nucleus
GO:0006281 DNA repair
GO:0006355 regulation of transcription, DNA-dependent
GO:0007131 meiotic recombination
GO:0007165 signal transduction
GO:0016740 transferase activity
GO:0016773 phosphotransferase activity, alcohol group as acceptor
GO:0045786 negative regulation of cell cycle
NCBI Gene Gene ID:472
NCBI GTR 208900 ATAXIA-TELANGIECTASIA; AT
607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
OMIM 208900 ATAXIA-TELANGIECTASIA; AT
607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Omim Description AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED
  AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED
  AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED
  AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED
  AT1
  ATAXIA-TELANGIECTASIA; AT
  LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • GM13765 - B-Lymphocyte
Miscellaneous
  • Custom Services

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848
Subscribe to our newsletter here

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2025 Coriell Institute. All rights reserved.

  • Facebook
  • Linkedin
  • Youtube